Rare Disease Library

Ichthyosis-oral and digital anomalies syndrome

Clayton Smith-Donnai syndrome

Aase-Smith syndrome type 1

Aase-Smith I syndrome · Hydrocephalus-cleft palate-joint contractures syndrome

Autoimmune lymphoproliferative syndrome

ALPS · Canale-Smith syndrome

CLAPO syndrome

Donnai-Barrow syndrome

DBS/FOAR syndrome · Diaphragmatic hernia-exomphalos-hypertelorism syndrome

Donohue syndrome

Dysraphism-cleft lip/palate-limb reduction defects syndrome

Medeira-Dennis-Donnai syndrome

Hidrotic ectodermal dysplasia

Clouston syndrome

Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome

Smith-Kingsmore syndrome · MINDS syndrome

Marshall-Smith syndrome

Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome

Mohr-Tranebjaerg syndrome

DDON syndrome · Deafness-dystonia-optic neuronopathy syndrome

Progeria-short stature-pigmented nevi syndrome

Mulvihill-Smith syndrome

Smith-Magenis syndrome

17p11.2 microdeletion syndrome

Thakker-Donnai syndrome

Dysmorphism-multiple structural anomalies syndrome